Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 44 variants

NM_017561.2

p.S691del1

c.2071_2073delAGA

NM_017561.2

p.L126F

c.376C>T

NM_017561.2

p.R176G

c.526A>G

NM_017561.2

p.P310L

c.929C>T

NM_017561.2

p.P387S

c.1159C>T

NM_017561.2

p.A589G

c.1766C>G

NM_017561.2

p.S696del1

c.2086_2087delGGA

NM_017561.2

p.K698_R699del1

c.2093_2095delGCT

NM_017561.2

p.E231delFs

c.691delC

NM_017561.2

p.A232delFs

c.696delC

NM_017561.2

p.L233delFs

c.698_699delAA

NM_017561.2

p.K355N

c.1065G>T